المؤلفون: Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Gallus GN; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Pieraccini G; CISM-Mass Spectrometry Centre, University of Florence, 50139 Florence, Italy., Boscaro F; CISM-Mass Spectrometry Centre, University of Florence, 50139 Florence, Italy., Berti G; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Serni G; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Volpi N; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Formichi P; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Bianchi S; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Cassandrini D; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy., Sorrentino V; Department of Molecular and Developmental Medicine, University of Siena, 53100 Siena, Italy.; Interdepartmental Program of Molecular Diagnosis and Pathogenetic Mechanisms of Rare Genetic Diseases, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Rossi D; Department of Molecular and Developmental Medicine, University of Siena, 53100 Siena, Italy.; Interdepartmental Program of Molecular Diagnosis and Pathogenetic Mechanisms of Rare Genetic Diseases, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Santorelli FM; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy., De Stefano N; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Malandrini A; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.

المصدر: Cells [Cells] 2024 Sep 08; Vol. 13 (17). Date of Electronic Publication: 2024 Sep 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Muscular Diseases*/genetics , Muscular Diseases*/pathology , Muscular Diseases*/metabolism , Muscle Proteins*/genetics , Muscle Proteins*/metabolism, Humans ; Male ; Female ; Adult ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Pedigree ; Middle Aged ; Sarcoplasmic Reticulum/metabolism ; Mutation/genetics ; Nonsense Mediated mRNA Decay/genetics

المؤلفون: Adadi S; Sidi Mohammed Ben Abdellah University, Faculty of Medicine, Pharmacy, and Dental Medicine, 30000, Hassan II University Hospital Center, Parasitology-Mycology Department, Fez, Morocco., Isaka Amidou R; Sidi Mohammed Ben Abdellah University, Faculty of Medicine, Pharmacy, and Dental Medicine, 30000, Hassan II University Hospital Center, Parasitology-Mycology Department, Fez, Morocco., Lebbar Z; Sidi Mohammed Ben Abdellah University, Faculty of Medicine, Pharmacy, and Dental Medicine, 30000, Hassan II University Hospital Center, Parasitology-Mycology Department, Fez, Morocco., Ben Saghroune H; Sidi Mohammed Ben Abdellah University, Faculty of Medicine, Pharmacy, and Dental Medicine, 30000, Hassan II University Hospital Center, Parasitology-Mycology Department, Fez, Morocco., Lakdim H; Sidi Mohammed Ben Abdellah University, Faculty of Medicine, Pharmacy, and Dental Medicine, 30000, Hassan II University Hospital Center, Parasitology-Mycology Department, Fez, Morocco., Elmrini A; Sidi Mohammed Ben Abdellah University, Faculty of Medicine, Pharmacy, and Dental Medicine, 30000, Hassan II University Hospital Center, Parasitology-Mycology Department, Fez, Morocco., Tlamçani Z; Sidi Mohammed Ben Abdellah University, Faculty of Medicine, Pharmacy, and Dental Medicine, 30000, Hassan II University Hospital Center, Parasitology-Mycology Department, Fez, Morocco.

المصدر: La Tunisie medicale [Tunis Med] 2024 Sep 05; Vol. 102 (9), pp. 595-599. Date of Electronic Publication: 2024 Sep 05.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Societe Tunisienne Des Sciences Medicales Country of Publication: Tunisia NLM ID: 0413766 Publication Model: Electronic Cited Medium: Internet ISSN: 2724-7031 (Electronic) Linking ISSN: 00414131 NLM ISO Abbreviation: Tunis Med Subsets: MEDLINE

مواضيع طبية MeSH: Echinococcosis*/diagnosis , Echinococcosis*/surgery , Muscular Diseases*/parasitology , Muscular Diseases*/diagnosis , Muscular Diseases*/surgery, Humans ; Female ; Middle Aged ; Buttocks/parasitology ; Muscle, Skeletal/parasitology ; Muscle, Skeletal/pathology ; Muscle, Skeletal/surgery

المؤلفون: Zhang H; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Medical College, Nantong University, Nantong, Jiangsu Province, 226001, P. R. China., Chang M; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Medical College, Nantong University, Nantong, Jiangsu Province, 226001, P. R. China., Chen D; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Medical College, Nantong University, Nantong, Jiangsu Province, 226001, P. R. China., Yang J; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Medical College, Nantong University, Nantong, Jiangsu Province, 226001, P. R. China., Zhang Y; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Medical College, Nantong University, Nantong, Jiangsu Province, 226001, P. R. China., Sun J; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Medical College, Nantong University, Nantong, Jiangsu Province, 226001, P. R. China., Yao X; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Medical College, Nantong University, Nantong, Jiangsu Province, 226001, P. R. China., Sun H; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Medical College, Nantong University, Nantong, Jiangsu Province, 226001, P. R. China., Gu X; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Medical College, Nantong University, Nantong, Jiangsu Province, 226001, P. R. China., Li M; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Medical College, Nantong University, Nantong, Jiangsu Province, 226001, P. R. China. limeiyuan1986@ntu.edu.cn., Shen Y; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Medical College, Nantong University, Nantong, Jiangsu Province, 226001, P. R. China. syt517@ntu.edu.cn., Dai B; Department of Orthopedics, Binhai County People's Hospital, Binhai, Jiangsu Province, 224500, P. R. China. happydaibin@163.com.

المصدر: Journal of translational medicine [J Transl Med] 2024 Sep 02; Vol. 22 (1), pp. 815. Date of Electronic Publication: 2024 Sep 02.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876 (Electronic) Linking ISSN: 14795876 NLM ISO Abbreviation: J Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: Muscular Diseases*/therapy , Muscular Diseases*/physiopathology , Muscular Diseases*/congenital, Humans ; Animals ; Genetic Therapy ; Myopathies, Structural, Congenital/therapy ; Myopathies, Structural, Congenital/genetics ; Myopathies, Structural, Congenital/physiopathology ; Mutation/genetics

المؤلفون: Barkhordarian M; Department of Internal Medicine, Hackensack Meridian Health, Hackensack, NJ, USA., Grijalva M; Department of Internal Medicine, Hackensack Meridian Health, Hackensack, NJ, USA., Lee A; Department of Internal Medicine, Hackensack Meridian Health, Hackensack, NJ, USA., Jarri A; Department of Internal Medicine, Hackensack Meridian Health, Hackensack, NJ, USA., Belyayeva A; Department of Internal Medicine, Hackensack Meridian Health, Hackensack, NJ, USA., Weissman S; Department of Internal Medicine, Hackensack Meridian Health, Hackensack, NJ, USA.

المصدر: The American journal of case reports [Am J Case Rep] 2024 Sep 02; Vol. 25, pp. e944261. Date of Electronic Publication: 2024 Sep 02.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: International Scientific Information, Inc Country of Publication: United States NLM ID: 101489566 Publication Model: Electronic Cited Medium: Internet ISSN: 1941-5923 (Electronic) Linking ISSN: 19415923 NLM ISO Abbreviation: Am J Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Hydroxymethylglutaryl-CoA Reductase Inhibitors*/adverse effects , Muscle Weakness*/chemically induced , Autoimmune Diseases*/chemically induced , Autoimmune Diseases*/diagnosis , Muscular Diseases*/chemically induced , Muscular Diseases*/diagnosis, Humans ; Male ; Aged ; Atorvastatin/adverse effects ; Myositis/chemically induced ; Myositis/diagnosis

المؤلفون: Shah M; Department of Rheumatology, Indraprastha Apollo Hospital, New Delhi, India., Shrestha K; Department of Internal Medicine, St. Barnabas Hospital, SBH Health System, Bronx, New York, USA., Tseng CW; Division of Allergy, Department of Internal Medicine, Immunology and Rheumatology, Taichung Veterans General Hospital, Taichung, Taiwan.; Department of Public Health, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Goyal A; Department of Internal Medicine, Seth GS Medical College and KEM Hospital, Mumbai, India., Liewluck T; Division of Neuromuscular Medicine, Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA., Gupta L; Department of Rheumatology, Royal Wolverhampton Hospitals NHS Trust, Wolverhampton, UK.; Division of Musculoskeletal and Dermatological Sciences, Centre for Musculoskeletal Research, School of Biological Sciences, The University of Manchester, Manchester, UK.

المصدر: International journal of rheumatic diseases [Int J Rheum Dis] 2024 Sep; Vol. 27 (9), pp. e15337.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley on behalf of the Asia Pacific League of Associations for Rheumatology Country of Publication: England NLM ID: 101474930 Publication Model: Print Cited Medium: Internet ISSN: 1756-185X (Electronic) Linking ISSN: 17561841 NLM ISO Abbreviation: Int J Rheum Dis Subsets: MEDLINE

مواضيع طبية MeSH: Hydroxymethylglutaryl-CoA Reductase Inhibitors*/adverse effects , Muscle, Skeletal*/drug effects , Muscle, Skeletal*/physiopathology , Muscular Diseases*/chemically induced , Muscular Diseases*/epidemiology , Muscular Diseases*/physiopathology , Muscular Diseases*/diagnosis , Muscular Diseases*/therapy, Humans ; Risk Factors ; Treatment Outcome ; Predictive Value of Tests

المؤلفون: Dwairi V; Departments of Neurology, University of Pittsburgh School of Medicine, UPMC, Pittsburgh, PA., Giacobbe A; Departments of Neurology, University of Pittsburgh School of Medicine, UPMC, Pittsburgh, PA., Zivkovic S; Department of Neurology, Yale School of Medicine, New Haven, CT; and., Lacomis D; Departments of Neurology, University of Pittsburgh School of Medicine, UPMC, Pittsburgh, PA.; Department of Pathology, University of Pittsburgh School of Medicine, UPMC, Pittsburgh, PA.

المصدر: Journal of clinical neuromuscular disease [J Clin Neuromuscul Dis] 2024 Sep 01; Vol. 26 (1), pp. 12-15.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 100887391 Publication Model: Print Cited Medium: Internet ISSN: 1537-1611 (Electronic) Linking ISSN: 15220443 NLM ISO Abbreviation: J Clin Neuromuscul Dis Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Diseases, X-Linked*/genetics , Genetic Diseases, X-Linked*/diagnostic imaging , Genetic Diseases, X-Linked*/diagnosis , Muscular Diseases*/genetics , Muscular Diseases*/diagnostic imaging , Muscular Diseases*/diagnosis , Muscle, Skeletal*/diagnostic imaging , Muscle, Skeletal*/pathology , Ultrasonography*, Humans ; Male ; Aged ; Electrodiagnosis ; Autophagy/genetics ; Genetic Testing

SCR Disease Name: Myopathy, X-Linked, with Excessive Autophagy

المؤلفون: Le Quang M; Department of Pathology, University Hospital (CHU) of Bordeaux, Pellegrin Hospital, Place Amélie Raba Léon, 33000, Bordeaux, France., Solé G; Department of Neurology, Nerve-Muscle Unit, AOC Reference for Neuromuscular Disorders, University Hospital (CHU) of Bordeaux, Pellegrin Hospital, Place Amélie Raba Léon, 33000, Bordeaux, France., Martin-Négrier ML; Department of Pathology, University Hospital (CHU) of Bordeaux, Pellegrin Hospital, Place Amélie Raba Léon, 33000, Bordeaux, France., Mathis S; Department of Neurology, Nerve-Muscle Unit, AOC Reference for Neuromuscular Disorders, University Hospital (CHU) of Bordeaux, Pellegrin Hospital, Place Amélie Raba Léon, 33000, Bordeaux, France. stephane.mathis@chu-bordeaux.fr.

المصدر: Journal of neurology [J Neurol] 2024 Sep; Vol. 271 (9), pp. 5722-5745. Date of Electronic Publication: 2024 Jun 21.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Muscular Diseases*/chemically induced , Muscular Diseases*/pathology , Muscular Diseases*/diagnosis, Humans ; Myotoxicity/etiology

المؤلفون: Rossi S; IRCCS - Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Costa R; DIBINEM - Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum Università di Bologna, Bologna, Italy., di Federico A; Medical Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Lo Bianco F; Medical Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., D'Angelo R; IRCCS - Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Asioli GM; IRCCS - Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., De Giglio A; Medical Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Sperandi F; Medical Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Guarino M; IRCCS - Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Rinaldi R; IRCCS - Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Ardizzoni A; Medical Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Cenacchi G; DIBINEM - Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum Università di Bologna, Bologna, Italy., Gelsomino F; Medical Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. Electronic address: francesco_gelsomino@aosp.bo.it.

المصدر: Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer [J Thorac Oncol] 2024 Sep; Vol. 19 (9), pp. 1352-1355. Date of Electronic Publication: 2024 Jun 25.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101274235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-1380 (Electronic) Linking ISSN: 15560864 NLM ISO Abbreviation: J Thorac Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Acrylamides*/adverse effects , Acrylamides*/pharmacology , Aniline Compounds*/adverse effects , Muscular Diseases*/chemically induced , Muscular Diseases*/pathology, Humans ; Lung Neoplasms/drug therapy ; Lung Neoplasms/pathology ; Antineoplastic Agents/adverse effects ; Male ; Aged ; Middle Aged ; Indoles ; Pyrimidines

المؤلفون: Isfort M; Departments of Neurology, Ohio State University Wexner Medical Center, Columbus, OH; and., Lacomis D; Departments of Neurology and Pathology (Neuropathology), University of Pittsburgh School of Medicine, Pittsburgh, PA.

المصدر: Journal of clinical neuromuscular disease [J Clin Neuromuscul Dis] 2024 Sep 01; Vol. 26 (1), pp. 16-31.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 100887391 Publication Model: Print Cited Medium: Internet ISSN: 1537-1611 (Electronic) Linking ISSN: 15220443 NLM ISO Abbreviation: J Clin Neuromuscul Dis Subsets: MEDLINE

مواضيع طبية MeSH: Muscular Diseases*/diagnosis , Muscular Diseases*/genetics , Muscular Diseases*/therapy, Humans

المؤلفون: Mak G; University of Alberta, Department of Neurology, Edmonton, Alberta, Canada., Tarnopolsky M; McMaster University, Department of Medicine and Pediatrics, Hamilton, Ontario, Canada., Lu JQ; McMaster University, Department of Pathology and Molecular Medicine, Hamilton, Ontario, Canada. Electronic address: luj85@mcmaster.ca.

المصدر: Mitochondrion [Mitochondrion] 2024 Sep; Vol. 78, pp. 101945. Date of Electronic Publication: 2024 Aug 10.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 100968751 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8278 (Electronic) Linking ISSN: 15677249 NLM ISO Abbreviation: Mitochondrion Subsets: MEDLINE

مواضيع طبية MeSH: Muscular Diseases*/genetics , Muscular Diseases*/pathology , Muscular Diseases*/metabolism, Humans ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Mitochondria/metabolism ; Mitochondria/genetics ; Mitochondria, Muscle/metabolism ; Mitochondria, Muscle/pathology ; Mitochondrial Myopathies/genetics ; Mitochondrial Myopathies/pathology ; Mitochondrial Myopathies/metabolism